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{\title Prikaz slu\'e8aja: obitelj oboljelih od facioskapulohumeralne mi\'9ai\'e6ne distrofije}{\author Sanja}{\operator Nina Canki Klain}{\creatim\yr2011\mo3\dy20\hr12\min11}{\revtim\yr2011\mo3\dy20\hr12\min11}{\printim\yr2011\mo3\dy15\hr21\min33}
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\hich\af38\dbch\af38\loch\f38 Prikaz }{\b\insrsid9853147 \hich\af38\dbch\af38\loch\f38 bolesnika iz }{\b\insrsid9853147\charrsid1651648 \hich\af38\dbch\af38\loch\f38 obitelj}{\b\insrsid9853147 \hich\af38\dbch\af38\loch\f38 i  oboljelih od facio}{
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\par }{\b\insrsid9853147\charrsid8997926 \hich\af38\dbch\af38\loch\f38 \hich\f38 Sanja Kova\'e8\loch\f38 \hich\f38 i\'e6\loch\f38 , }{\b\insrsid9853147 \hich\af38\dbch\af38\loch\f38 Odjel neurologije, }{\b\insrsid9853147\charrsid8997926 
\hich\af38\dbch\af38\loch\f38 \hich\f38 Op\'e6\loch\f38 a bolnica Zabok, Zabok, Hrvatska
\par }{\b\insrsid9853147 \hich\af38\dbch\af38\loch\f38 \hich\f38 Nina Canki-Klain, Medicinski fakultet Sveu\'e8\loch\f38 \hich\f38 ili\'9a\loch\f38 \hich\f38 ta u Zagrebu, Hrvatski institut za istra\'9e\loch\f38 ivanje mozga, Zagreb, Hrvatska
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\hich\af38\dbch\af38\loch\f38 \hich\f38 Facioskapulohumeralna mi\'9a\loch\f38 \hich\f38 i\'e6\loch\f38 na distrofija }{\cf1\insrsid9853147 \hich\af38\dbch\af38\loch\f38 \hich\f38 (FSHD) je po u\'e8\loch\f38 \hich\f38 estalosti tre\'e6\loch\f38 \hich\f38 
a od genetskih mi\'9a\loch\f38 \hich\f38 i\'e6\loch\f38 nih b\hich\af38\dbch\af38\loch\f38 \hich\f38 olesti s pribli\'9e\loch\f38 nom prevalencijom }{\cf1\insrsid9853147\charrsid4488021 \hich\af38\dbch\af38\loch\f38 \hich\f38  1: 20 000. Naslje\'f0
\loch\f38 uje se }{\cf1\insrsid9853147 \hich\af38\dbch\af38\loch\f38 na }{\cf1\insrsid9853147\charrsid4488021 \hich\af38\dbch\af38\loch\f38 autosom}{\cf1\insrsid9853147 \hich\af38\dbch\af38\loch\f38 a}{\cf1\insrsid9853147\charrsid4488021 
\hich\af38\dbch\af38\loch\f38 n dominant}{\cf1\insrsid9853147 \hich\af38\dbch\af38\loch\f38 a}{\cf1\insrsid9853147\charrsid4488021 \hich\af38\dbch\af38\loch\f38 n}{\cf1\insrsid9853147 \hich\af38\dbch\af38\loch\f38 \hich\f38  na\'e8\loch\f38 \hich\f38 
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\hich\af38\dbch\af38\loch\f38 na krajnjem dijelu dugog kraka kromo\hich\af38\dbch\af38\loch\f38 soma 4}{\cf1\insrsid9853147 \hich\af38\dbch\af38\loch\f38 
 (4q35) a koji prepoznaje sonda p13E-11 (1) i koji se nalazi na kromosomu 4 povezanim s haplotipom 4A161 (2).
\par 
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\hich\af38\dbch\af38\loch\f38 u}{\cf1\insrsid9853147\charrsid4488021 \hich\af38\dbch\af38\loch\f38  karakterizira slabo}{\cf1\insrsid9853147 \hich\af38\dbch\af38\loch\f38 st}{\cf1\insrsid9853147\charrsid4488021 \hich\af38\dbch\af38\loch\f38 \hich\f38  mi
\'9a\loch\f38 \hich\f38 i\'e6\loch\f38 a lica, sporo progresiv}{\cf1\insrsid9853147 \hich\af38\dbch\af38\loch\f38 an razvoj}{\cf1\insrsid9853147\charrsid4488021 \hich\af38\dbch\af38\loch\f38 \hich\f38  asimetri\'e8\loch\f38 \hich\f38 ne slabosti naj\'e8
\loch\f38 \hich\f38 e\'9a\'e6\loch\f38 \hich\f38 e mi\'9a\loch\f38 \hich\f38 i\'e6\loch\f38 \hich\f38 a ramenog obru\'e8\loch\f38 a, posebno oni\hich\af38\dbch\af38\loch\f38 \hich\f38 h koji podi\'9e\loch\f38 \hich\f38 u lopatice, te mi\'9a\loch\f38 
\hich\f38 i\'e6\loch\f38 \hich\f38 a nadlaktica, a potom zdjelice i peronealnih mi\'9a\loch\f38 \hich\f38 i\'e6\loch\f38 a}{\cf1\insrsid9853147 \hich\af38\dbch\af38\loch\f38 . }{\lang2074\langfe1033\langnp2074\insrsid9853147 \hich\af38\dbch\af38\loch\f38 
\hich\f38 Ovaj se oblik bolesti javlja naj\'e8\loch\f38 \hich\f38 e\'9a\'e6\loch\f38 \hich\f38 e od 12. godine pa nadalje, kod oba spola. Sporo napreduje, s povremenim kratkim periodima brzog onesposobljenja mi\'9a\loch\f38 \hich\f38 i\'e6\loch\f38 
a i njihove slabo\hich\af38\dbch\af38\loch\f38 \hich\f38 sti. Te\'9e\loch\f38 \hich\f38 ina bolesti varira od vrlo blage do vrlo te\'9a\loch\f38 \hich\f38 ke koja dovodi do gubitka autonomnog hoda. \'8e\loch\f38 \hich\f38 ivotni vijek obi\'e8\loch\f38 
\hich\f38 no nije skra\'e6\loch\f38 en. }{\insrsid9853147 
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\par }\pard \ql \li0\ri0\sa200\widctlpar\aspalpha\aspnum\faauto\adjustright\rin0\lin0\itap0\pararsid11544949 {\insrsid9853147\charrsid13067530 \hich\af38\dbch\af38\loch\f38 U ovom je radu prikazan  pedeset}{\insrsid4552450 \hich\af38\dbch\af38\loch\f38  }{
\insrsid9853147\charrsid13067530 \hich\af38\dbch\af38\loch\f38 \hich\f38 dvogodi\'9a\loch\f38 nji  bolesnik s FSHD i njegova obitelj.
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\hich\f38 : Majka i otac nisu bili u srodstvu premda su potjecali iz istog kraja. Otac je radio u rudniku i umro od sr\'e8\loch\f38 ane slabosti u 50. godini. }{\cf1\insrsid4552450 \hich\af38\dbch\af38\loch\f38 Roditelji navodno ni
\hich\af38\dbch\af38\loch\f38 su imali \hich\af38\dbch\af38\loch\f38 \hich\f38 nikakvih mi\'9a\loch\f38 \hich\f38 i\'e6\loch\f38 nih \hich\af38\dbch\af38\loch\f38 tegob\hich\af38\dbch\af38\loch\f38 a\hich\af38\dbch\af38\loch\f38 .
\hich\af38\dbch\af38\loch\f38  }{\cf1\insrsid9853147 \hich\af38\dbch\af38\loch\f38 \hich\f38 Bolesnik ima dva brata od kojih jedan nosi slu\'9a\loch\f38 ni aparat od 19. god. te dvije sestre. Jednoj od njih, tri godine starijo
\hich\af38\dbch\af38\loch\f38 \hich\f38 j od bolesnika potvr\'f0\loch\f38 ena je molekularno FSHD u dobi od 43 god}{\insrsid9853147 \hich\af38\dbch\af38\loch\f38 \hich\f38 
. Bolesnik je imao nedavno preminulu suprugu koja je bolovala od neurofibromatoze tip 1. Sin ima 25 godina i  prema pri\'e8\loch\f38 \hich\f38 anju oca nema klini\'e8\loch\f38 \hich\f38 kih znakova bolesti kao ni k\'e6\loch\f38 er koja ima 20 godina. Sin
\hich\af38\dbch\af38\loch\f38 \hich\f38  bolesnika ima k\'e6\loch\f38 er u dobi od 5 godina koja nije pregledana, ali je po opisu djeda zdrava. }{\insrsid9853147\charrsid10555960 
\par }{\b\i\cf1\insrsid9853147\charrsid10224839 \hich\af38\dbch\af38\loch\f38 Osobna anamneza\hich\af38\dbch\af38\loch\f38 :}{\b\i\cf1\insrsid12333208 \hich\af38\dbch\af38\loch\f38  }{\cf1\insrsid12333208\charrsid12333208 \hich\af38\dbch\af38\loch\f38 
\hich\f38 Po pri\'e8\loch\f38 anju }{\cf1\insrsid12333208 \hich\af38\dbch\af38\loch\f38 je }{\cf1\insrsid12333208\charrsid12333208 \hich\af38\dbch\af38\loch\f38 uvijek bio zdrav\hich\af38\dbch\af38\loch\f38 .}{\cf1\insrsid12333208 
\hich\af38\dbch\af38\loch\f38  Nije imao nikakav operativni zahvat koji \hich\af38\dbch\af38\loch\f38 bi zahtijevao }{\cf1\insrsid4023380 \hich\af38\dbch\af38\loch\f38 \hich\f38 op\'e6\loch\f38 u narkozu.}{\cf1\insrsid9853147\charrsid10224839 
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\hich\af38\dbch\af38\loch\f38 \hich\f38   Sada\'9a\loch\f38 \hich\f38 nja bolest je zapo\'e8\loch\f38 \hich\f38 ela ve\'e6\loch\f38  u 14. godini. }{\cf1\insrsid9853147\charrsid15545060 \hich\af38\dbch\af38\loch\f38 Od  14-15. godine}{\cf1\insrsid9853147 
\hich\af38\dbch\af38\loch\f38  je}{\cf1\insrsid9853147\charrsid15545060 \hich\af38\dbch\af38\loch\f38 \hich\f38  primje\'e6}{\cf1\insrsid9853147 \hich\af38\dbch\af38\loch\f38 ivao pri igranju nogometa}{\cf1\insrsid9853147\charrsid15545060 
\hich\af38\dbch\af38\loch\f38  da ne m\hich\af38\dbch\af38\loch\f38 \hich\f38 o\'9e\loch\f38 \hich\f38 e tr\'e8\loch\f38 \hich\f38 ati kao drugi dje\'e8\loch\f38 aci}{\cf1\insrsid9853147 \hich\af38\dbch\af38\loch\f38 \hich\f38  i \'e8\loch\f38 \hich\f38 
esto je padao pri hodu. Primijetio je da mu str\'9a\loch\f38 \hich\f38 e lopatice i da sve te\'9e\loch\f38 \hich\f38 e mo\'9e\loch\f38 \hich\f38 e dr\'9e\loch\f38 \hich\f38 ati ruke iznad glave. Pri  nova\'e8\loch\f38 \hich\f38 
enju  je osposobljen, ali je u Vojnomedicinskoj akademiji u Beogradu postavljena dijagnoza mi\'9a\loch\f38 \hich\f38 i\'e6\loch\f38 ne distrofije. \hich\af38\dbch\af38\loch\f38 \hich\f38 U dobi od 24 godine napravljen je bio detaljan neurolo\'9a\loch\f38 
\hich\f38 ki i EMG pregled i postavljena dijagnoza \'84\loch\f38 \hich\f38 progresivne mi\'9a\loch\f38 \hich\f38 i\'e6\loch\f38 \hich\f38 ne distrofije pojasnog descendentnog tipa  u fazi kad je uz rameni pojas koji je najvi\'9a\loch\f38 \hich\f38 e zahva
\'e6\loch\f38 \hich\f38 en, do\'9a\loch\f38 \hich\f38 lo do zahva\'e6\loch\f38 \hich\f38 anja lica i zdjeli\'e8\loch\f38 nog poja\hich\af38\dbch\af38\loch\f38 s\hich\af38\dbch\af38\loch\f38 \hich\f38 a\'93\loch\f38 \hich\f38 
. Bolesniku je savjetovano rehabilitacijsko lije\'e8\loch\f38 \hich\f38 enje barem jednom godi\'9a\loch\f38 \hich\f38 nje. Obzirom na relativno benigan tok bolesti te o\'e8\loch\f38 \hich\f38 uvanost mi\'9a\loch\f38 \hich\f38 i\'e6\loch\f38 \hich\f38 
a podlaktica, \'9a\loch\f38 \hich\f38 aka i prstiju, savjetovalo se da se bolesniku osigura radno mjesto u sjede\'e6\loch\f38 \hich\f38 em polo\'9e\loch\f38 aju.
\par \hich\af38\dbch\af38\loch\f38 Ne uzima trajne\hich\af38\dbch\af38\loch\f38  terapije. Alergije na lijekove negira. }{\insrsid9853147\charrsid13067530 
\par }\pard \ql \li0\ri0\sa200\widctlpar\aspalpha\aspnum\faauto\adjustright\rin0\lin0\itap0\pararsid5520174 {\b\i\insrsid9853147\charrsid3479663 \hich\af38\dbch\af38\loch\f38 \hich\f38 Klini\'e8\loch\f38 ki nalaz:}{\insrsid9853147\charrsid11686123 
\hich\af38\dbch\af38\loch\f38  }{\insrsid9853147 \hich\af38\dbch\af38\loch\f38 \hich\f38 Bolesnik je samostalno pokretan, no potpuno je ovisan o tu\'f0\loch\f38 \hich\f38 oj pomo\'e6\loch\f38 \hich\f38 i pri obavljanju svakodnevnih radnji (obla\'e8
\loch\f38 \hich\f38 enje, osobna higijena, te\'9a\loch\f38 \hich\f38 ko jede \'9e\loch\f38 \hich\f38 licom i sl.). Ne mo\'9e\loch\f38 \hich\f38 e ustati iz \'e8\loch\f38 \hich\f38 u\'e8\loch\f38 nja niti iz stolice\hich\af38\dbch\af38\loch\f38 \hich\f38 
, ne mo\'9e\loch\f38 \hich\f38 e hodati niti uz niti niza stube. Slabije \'e8\loch\f38 \hich\f38 uje na desno uho. Povremeno ima \'84\loch\f38 \hich\f38 palpitacije\'93\loch\f38 \hich\f38 , no zadnjih vi\'9a\loch\f38 \hich\f38 e od 10 godina nije neurolo
\'9a\loch\f38 \hich\f38 ki obra\'f0\loch\f38 ivan.}{\insrsid9853147 
\par }{\insrsid9853147 \hich\af38\dbch\af38\loch\f38 \hich\f38 Bolesnik ima slabije artikuliran govor uslijed slabosti mimi\'e8\loch\f38 \hich\f38 ne muskulature koja je ja\'e8\loch\f38 \hich\f38 e izra\'9e\loch\f38 ena desn\hich\af38\dbch\af38\loch\f38 
\hich\f38 o. Elevacija ruku je mogu\'e6\loch\f38 \hich\f38 a samo do razine trbuha. Ne izvodi fleksiju i ekstenziju u laktu obostrano. Pronacija je mogu\'e6\loch\f38 \hich\f38 a, ali ne izvodi supinaciju. Mo\'9e\loch\f38 \hich\f38 
e stati na prste, ali ne na pete. Hod uz geganje. Dominira slabost mi\'9a\loch\f38 \hich\f38 i\'e6\loch\f38 \hich\f38 a ramenog obru\'e8\loch\f38 a, osobito podiz\hich\af38\dbch\af38\loch\f38 a\loch\af38\dbch\af38\hich\f38 \'e8\loch\f38 \hich\f38 
a lopatica. Najizra\'9e\loch\f38 \hich\f38 enija hipotrofija mi\'9a\loch\f38 \hich\f38 i\'e6\loch\f38 \hich\f38 a lopatica obostrano, oba ramena i obje nadlaktice, ne\'9a\loch\f38 to manje }{\cf1\insrsid9853147\charrsid4488021 
\hich\af38\dbch\af38\loch\f38 \hich\f38 mi\'9a\loch\f38 \hich\f38 i\'e6\loch\f38 \hich\f38 a zdjelice i peronealnih mi\'9a\loch\f38 \hich\f38 i\'e6\loch\f38 a}{\cf1\insrsid9853147 \hich\af38\dbch\af38\loch\f38 \hich\f38 , vi\'9a\loch\f38 e lijevo.}{
\insrsid9853147 \hich\af38\dbch\af38\loch\f38  MTR ne izazivam. Vidi se blaga torakolumbalna lordoza.}{\b\insrsid9853147\charrsid2698795 \hich\af38\dbch\af38\loch\f38  
\par \hich\af38\dbch\af38\loch\f38 \hich\f38 ZAKLJU\'c8\loch\f38 AK}{\b\insrsid9853147 \hich\af38\dbch\af38\loch\f38 : }{\insrsid9853147 \hich\af38\dbch\af38\loch\f38 na temelju poznavanja sestre i\hich\af38\dbch\af38\loch\f38 \hich\f38 
 sina bolesnika kod kojih je u dobi od 43 i 13 god. postavljena sumnja na FSHD koja je potvr\'f0\loch\f38 \hich\f38 ena u Parizu u laboratoriju prof. J-C.Kaplana, anamnesti\'e8\loch\f38 \hich\f38 kog podatka o slabosti sluha brata te karakteristi\'e8
\loch\f38 \hich\f38 ne klini\'e8\loch\f38 \hich\f38 ke slike i tijeka bolesti bolesnika, mo\'9e\loch\f38 e se \hich\af38\dbch\af38\loch\f38 s\hich\af38\dbch\af38\loch\f38 \hich\f38 a sigurno\'9a\'e6\loch\f38 
u tvrditi da bolesnik ima FSHD. Molekularna potvrda dijagnoze nije potrebna.}{\insrsid9853147 
\par }\pard \ql \li0\ri0\sa200\widctlpar\aspalpha\aspnum\faauto\adjustright\rin0\lin0\itap0\pararsid14696205 {\insrsid9853147 \hich\af38\dbch\af38\loch\f38 \hich\f38 Bolesniku su preporu\'e8\loch\f38 \hich\f38 eni pregled sluha i procjena plu\'e6\loch\f38 
\hich\f38 ne funkcije, rehabilitacijsko lije\'e8\loch\f38 \hich\f38 enje te po potrebi pregled kod okulista i po potrebi FAG.  Na\'9e\loch\f38 alost, bolesnik j\hich\af38\dbch\af38\loch\f38 e zainteresiran jedino za ocjenu radne sposobnosti.}{
\b\insrsid9853147 
\par }\pard \ql \li0\ri0\widctlpar\faauto\rin0\lin0\itap0\pararsid13000832 {\b\insrsid9853147 \hich\af38\dbch\af38\loch\f38 RASPRAVA: }{\insrsid9853147\charrsid12068598 \hich\af38\dbch\af38\loch\f38 \hich\f38 Veliki broj osoba sa invaliditetom \'9e\loch\f38 
\hich\f38 ivi u klimi diskriminacije, predrasuda, neznanja, s \'e8\loch\f38 \hich\f38 esto nezadovoljenim elementarnim potrebama. Tako\'f0\loch\f38 \hich\f38 er sve te\'9e\loch\f38 a gospodarska situacija }{\insrsid9853147 \hich\af38\dbch\af38\loch\f38 
\hich\f38 u na\'9a\loch\f38 oj zemlji }{\insrsid9853147\charrsid12068598 \hich\af38\dbch\af38\loch\f38 \hich\f38 koja je sa sobom donijela porast nezaposlenosti i male pla\'e6\loch\f38 \hich\f38 e, problemi su s kojima se susre\'e6\loch\f38 \hich\f38 
e sve ve\'e6\loch\f38 \hich\f38 i broj gra\'f0\loch\f38 ana}{\insrsid9853147 \hich\af38\dbch\af38\loch\f38 , posebice osoba s invaliditetom}{\insrsid9853147\charrsid12068598 \hich\af38\dbch\af38\loch\f38 . }{\insrsid9853147\charrsid4918617 
\hich\af38\dbch\af38\loch\f38 Iz razgovora}{\b\insrsid9853147 \hich\af38\dbch\af38\loch\f38  }{\insrsid9853147 \hich\af38\dbch\af38\loch\f38 \hich\f38 s bolesnikom i njegovom suprugom stje\'e8\loch\f38 e se dojam negacije}{
\insrsid9853147\charrsid12068598 \hich\af38\dbch\af38\loch\f38  bolesti u sina }{\insrsid9853147 \hich\af38\dbch\af38\loch\f38 i od}{\insrsid9853147\charrsid12068598 \hich\af38\dbch\af38\loch\f38  strane oca i sin\hich\af38\dbch\af38\loch\f38 \hich\f38 
a radi mogu\'e6\loch\f38 e diskriminacije}{\insrsid9853147 \hich\af38\dbch\af38\loch\f38 , odnosno straha od }{\insrsid9853147\charrsid12068598 \hich\af38\dbch\af38\loch\f38 gubi}{\insrsid9853147 \hich\af38\dbch\af38\loch\f38 tka}{
\insrsid9853147\charrsid12068598 \hich\af38\dbch\af38\loch\f38  posla}{\insrsid9853147 \hich\af38\dbch\af38\loch\f38 \hich\f38 . Kategori\'e8\loch\f38 \hich\f38 ka tvrdnja bolesnika neurologu da ima zdravog sina, k\'e6\loch\f38 \hich\f38 
er i zdravu unuku nu\'9e\loch\f38 \hich\f38 no name\'e6\loch\f38 e brojne }{\insrsid9853147\charrsid12068598 \hich\af38\dbch\af38\loch\f38 \hich\f38 eti\'e8\loch\f38 k}{\insrsid9853147 \hich\af38\dbch\af38\loch\f38 e dileme}{
\insrsid9853147\charrsid12068598 \hich\af38\dbch\af38\loch\f38  }{\insrsid9853147 \hich\af38\dbch\af38\loch\f38 \hich\f38 lije\'e8\loch\f38 \hich\f38 niku prakti\'e8\loch\f38 aru koji nije educiran za genetsko savjetovanje. Genetsko sav
\hich\af38\dbch\af38\loch\f38 \hich\f38 jetovanje je proces, a ne \'e8\loch\f38 \hich\f38 in, \'9a\loch\f38 \hich\f38 to zna\'e8\loch\f38 \hich\f38 i da je u vi\'9a\loch\f38 \hich\f38 
e navrata bolesniku i njegovoj obitelji potrebno dati iscrpnu informaciju o tijeku, mogu\'e6\loch\f38 \hich\f38 im komplikacijama i sada\'9a\loch\f38 \hich\f38 njim mogu\'e6\loch\f38 \hich\f38 nostima lije\'e8\loch\f38 \hich\f38 enja bolesti, \'9a
\loch\f38 \hich\f38 to \'e6\loch\f38 e motivirati bolesnika. Isto tako, bolesnik tre\hich\af38\dbch\af38\loch\f38 b\hich\af38\dbch\af38\loch\f38 \hich\f38 a znati da li ima rizik za bolesno dijete i kakve su mogu\'e6\loch\f38 \hich\f38 
nosti izbora. Za to je neophodan uvjet stvoriti povjerenje izme\'f0\loch\f38 \hich\f38 u lije\'e8\loch\f38 \hich\f38 nika i obitelji. Postoje principi kojih se treba dr\'9e\loch\f38 
ati: pravo bolesnika da zna za svoju bolest kao i pravo da to ne zna, ukol\hich\af38\dbch\af38\loch\f38 i\hich\af38\dbch\af38\loch\f38 \hich\f38 ko ne \'9e\loch\f38 \hich\f38 
eli. Genetsko savjetovanje bi trebalo biti ne direktivna informacija, a ne savjet \'9a\loch\f38 \hich\f38 to bi bolesnik trebao ili ne u\'e8\loch\f38 \hich\f38 initi. Ukoliko lije\'e8\loch\f38 \hich\f38 nik osje\'e6\loch\f38 \hich\f38 a te\'9a\loch\f38 
\hich\f38 ko\'e6\loch\f38 e u kontaktu s bolesnikom koji ima genetsku bolest, bilo bi najbolje da ga uputi u genetsko savje\hich\af38\dbch\af38\loch\f38 t\hich\af38\dbch\af38\loch\f38 \hich\f38 ovali\'9a\loch\f38 te.}{\insrsid9853147\charrsid13067530 

\par }{\insrsid9853147 
\par }\pard \ql \li0\ri0\sa200\widctlpar\aspalpha\aspnum\faauto\adjustright\rin0\lin0\itap0\pararsid5520174 {\b\insrsid9853147 \hich\af38\dbch\af38\loch\f38 LITERATURA\line 1.}{\i\insrsid9853147\charrsid2820338 \hich\af38\dbch\af38\loch\f38  }{
\insrsid9853147\charrsid11298393 \hich\af38\dbch\af38\loch\f38 Wijmenga C, Frantz RR, Brouwer OF et al. Location  of facioscapulohumeral muscular dystrophy  gene on chromosome 4.}{\i\insrsid9853147\charrsid2820338 \hich\af38\dbch\af38\loch\f38  Lancet }{
\insrsid9853147\charrsid11298393 \hich\af38\dbch\af38\loch\f38 1990; 336:651-653.}{\i\insrsid9853147 
\par }{\i\insrsid9853147 \hich\af38\dbch\af38\loch\f38 2}{\i\insrsid9853147\charrsid3242031 \hich\af38\dbch\af38\loch\f38 .}{\insrsid9853147\charrsid7671278 \hich\af38\dbch\af38\loch\f38  }{\lang2057\langfe1033\langnp2057\insrsid9853147\charrsid3242031 
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\lang2057\langfe1033\langnp2057\insrsid9853147\charrsid3242031 \hich\af38\dbch\af38\loch\f38 Padberg}{\insrsid9853147\charrsid3242031 \hich\af38\dbch\af38\loch\f38  }{\lang2057\langfe1033\langnp2057\insrsid9853147\charrsid3242031 
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\cf1\lang2057\langfe1033\langnp2057\insrsid9853147\charrsid3242031 \hich\af38\dbch\af38\loch\f38 Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.}{
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\cf1\lang2057\langfe1033\langnp2057\insrsid9853147\charrsid3242031 \hich\af38\dbch\af38\loch\f38 2007}{\lang2057\langfe1033\langnp2057\insrsid9853147\charrsid3242031 \hich\af38\dbch\af38\loch\f38 ; }{
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\cf1\lang2057\langfe1033\langnp2057\insrsid9853147\charrsid3242031 \hich\af38\dbch\af38\loch\f38 94}{\lang2057\langfe1033\langnp2057\insrsid9853147\charrsid3242031 \hich\af38\dbch\af38\loch\f38 .}{\b\insrsid9853147\charrsid2698795 
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